Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Lrrc45'

283839

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc45

Ensembl Gene

ENSMUSG00000025145

Gene Name

leucine rich repeat containing 45

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

120713925-120721128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120718508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 398 (T398A)

Ref Sequence

ENSEMBL: ENSMUSP00000123038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026137] [ENSMUST00000026139] [ENSMUST00000055424] [ENSMUST00000106154] [ENSMUST00000106155] [ENSMUST00000142229] [ENSMUST00000145781] [ENSMUST00000151852]

AlphaFold

Q8CIM1

Predicted Effect

probably benign
Transcript: ENSMUST00000018156

SMART Domains

Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	179	8.8e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026137

SMART Domains

Protein: ENSMUSP00000026137
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	55	107	3e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026139
AA Change: T398A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145
AA Change: T398A

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	4e-11	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055424

SMART Domains

Protein: ENSMUSP00000050335
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	8	78	7.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106154

SMART Domains

Protein: ENSMUSP00000101760
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
Pfam:CENP-X	44	114	6.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106155

SMART Domains

Protein: ENSMUSP00000101761
Gene: ENSMUSG00000025144

Domain	Start	End	E-Value	Type
low complexity region	39	50	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134322

Predicted Effect

probably benign
Transcript: ENSMUST00000142229

SMART Domains

Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	172	3.19e-127	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000145781
AA Change: T398A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145
AA Change: T398A

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	1e-10	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	399	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150225

Predicted Effect

probably benign
Transcript: ENSMUST00000151852

SMART Domains

Protein: ENSMUSP00000115298
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
Pfam:LRR_6	85	108	1e-2	PFAM
Blast:LRR	113	142	3e-11	BLAST
Pfam:LRR_6	143	162	7.6e-3	PFAM
Pfam:LRR_1	145	159	6.8e-2	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155187

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Lrrc45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Lrrc45	APN	11	120720610	splice site	probably benign
IGL01120:Lrrc45	APN	11	120720010	missense	probably benign
IGL01536:Lrrc45	APN	11	120715584	missense	probably benign	0.01
IGL01839:Lrrc45	APN	11	120717149	splice site	probably null
IGL02302:Lrrc45	APN	11	120718525	missense	possibly damaging	0.68
IGL02724:Lrrc45	APN	11	120718318	missense	probably benign	0.25
BB002:Lrrc45	UTSW	11	120715880	missense	probably benign
BB012:Lrrc45	UTSW	11	120715880	missense	probably benign
R0396:Lrrc45	UTSW	11	120714907	splice site	probably benign
R0420:Lrrc45	UTSW	11	120715219	missense	probably damaging	1.00
R0540:Lrrc45	UTSW	11	120715162	nonsense	probably null
R0833:Lrrc45	UTSW	11	120718193	splice site	probably null
R0942:Lrrc45	UTSW	11	120718238	unclassified	probably benign
R1252:Lrrc45	UTSW	11	120715471	missense	probably benign	0.13
R1426:Lrrc45	UTSW	11	120720013	missense	probably benign	0.00
R1543:Lrrc45	UTSW	11	120720018	missense	probably benign	0.06
R1570:Lrrc45	UTSW	11	120720109	critical splice donor site	probably null
R2392:Lrrc45	UTSW	11	120719539	missense	probably benign	0.00
R3000:Lrrc45	UTSW	11	120718447	missense	probably benign	0.00
R3930:Lrrc45	UTSW	11	120718677	missense	probably benign	0.06
R4158:Lrrc45	UTSW	11	120718446	missense	possibly damaging	0.52
R4161:Lrrc45	UTSW	11	120718446	missense	possibly damaging	0.52
R4432:Lrrc45	UTSW	11	120715221	critical splice donor site	probably null
R4647:Lrrc45	UTSW	11	120719121	missense	probably benign	0.02
R6030:Lrrc45	UTSW	11	120720648	nonsense	probably null
R6030:Lrrc45	UTSW	11	120720648	nonsense	probably null
R6220:Lrrc45	UTSW	11	120719527	missense	probably benign	0.37
R7676:Lrrc45	UTSW	11	120720322	missense	probably damaging	1.00
R7925:Lrrc45	UTSW	11	120715880	missense	probably benign
R9067:Lrrc45	UTSW	11	120715823	missense	possibly damaging	0.92
R9069:Lrrc45	UTSW	11	120717121	missense	probably benign
R9366:Lrrc45	UTSW	11	120720726	missense	probably damaging	1.00
X0026:Lrrc45	UTSW	11	120720232	missense	probably damaging	1.00
Z1088:Lrrc45	UTSW	11	120720231	missense	probably damaging	1.00
Z1177:Lrrc45	UTSW	11	120718653	missense	probably benign	0.43
Z1177:Lrrc45	UTSW	11	120718665	missense	possibly damaging	0.90

Posted On

2015-04-16